ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1868-5T>C

dbSNP: rs773911334
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001013456 SCV001174043 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-07 criteria provided, single submitter clinical testing The c.1868-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 16 in the MRE11A gene. This nucleotide position is not well conserved in available vertebrate species, and C is the reference nucleotide in multiple species. Using the BDGP splice site prediction tool, this alteration does not have any significant effect on this splice acceptor site, however the ESEfinder splice site prediction tool predicts a slight weakening in the native splice acceptor site efficiency. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV001788397 SCV002030225 uncertain significance Ataxia-telangiectasia-like disorder 1 2021-02-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV002236100 SCV002509445 likely benign Ataxia-telangiectasia-like disorder 2023-05-09 criteria provided, single submitter clinical testing

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